Canonical Allele Identifier: CA645373211

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431197
• ClinVar RCV Id: RCV002420263
• dbSNP Id: rs1555597152
• MyVariant Identifiers: chr17:g.41258452_41258478del (hg19) ; chr17:g.41258451_41258477del (hg19) ; chr17:g.43106434_43106460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43106435_43106461del , CM000679.2:g.43106435_43106461del	GRCh38
NC_000017.10:g.41258452_41258478del , CM000679.1:g.41258452_41258478del	GRCh37
NC_000017.9:g.38511978_38512004del	NCBI36
NG_005905.2:g.111524_111550del , LRG_292:g.111524_111550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.272_276+22del
ENST00000461574.2:c.208_212+22del
ENST00000470026.6:c.208_212+22del
ENST00000473961.6:c.208_212+22del
ENST00000476777.6:c.208_212+22del
ENST00000477152.6:c.135-1504_135-1478del	ENSP00000419988.2:n.135-1504_135-1478del
ENST00000478531.6:c.208_212+22del
ENST00000489037.2:c.135-1504_135-1478del	ENSP00000420781.2:n.135-1504_135-1478del
ENST00000493919.6:c.67_71+22del
ENST00000494123.6:c.208_212+22del
ENST00000497488.2:c.-218-11600_-218-11574del	ENSP00000418986.2:n.-218-11600_-218-11574del
ENST00000618469.2:c.208_212+22del
ENST00000634433.2:c.208_212+22del
ENST00000644379.2:c.208_212+22del
ENST00000644555.2:c.67_71+22del
ENST00000652672.2:c.67_71+22del
ENST00000484087.6:c.208_212+22del
ENST00000700182.1:c.135-1504_135-1478del	ENSP00000514849.1:n.135-1504_135-1478del
ENST00000700183.1:c.*126+18_*126+44del	ENSP00000514850.1:n.*126+18_*126+44del
ENST00000700184.1:n.451_455+22del
ENST00000357654.9:c.208_212+22del
ENST00000471181.7:c.208_212+22del
ENST00000642945.1:c.*82_*86+22del
ENST00000644555.1:c.67_71+22del
ENST00000652672.1:c.67_71+22del
ENST00000352993.7:c.208_212+22del
ENST00000354071.7:c.208_212+22del
ENST00000357654.7:c.208_212+22del
ENST00000461221.5:c.190+18_190+44del	ENSP00000418548.1:n.190+18_190+44del
ENST00000461798.5:c.190+18_190+44del	ENSP00000417988.1:n.190+18_190+44del
ENST00000468300.5:c.208_212+22del
ENST00000470026.5:c.208_212+22del
ENST00000471181.6:c.208_212+22del
ENST00000476777.5:c.208_212+22del
ENST00000477152.5:c.135-1504_135-1478del	ENSP00000419988.1:n.135-1504_135-1478del
ENST00000478531.5:c.208_212+22del
ENST00000489037.1:c.135-1504_135-1478del	ENSP00000420781.1:n.135-1504_135-1478del
ENST00000491747.6:c.208_212+22del
ENST00000492859.5:c.*144_*148+22del
ENST00000493795.5:c.67_71+22del
ENST00000493919.5:c.67_71+22del
ENST00000494123.5:c.208_212+22del
ENST00000497488.1:c.-218-11600_-218-11574del	ENSP00000418986.1:n.-218-11600_-218-11574del
ENST00000586385.5:c.4+18722_4+18748del	ENSP00000465818.1:n.4+18722_4+18748del
ENST00000591534.5:c.-44+18811_-44+18837del	ENSP00000467329.1:n.-44+18811_-44+18837del
ENST00000591849.5:c.-99+18811_-99+18837del	ENSP00000465347.1:n.-99+18811_-99+18837del
ENST00000634433.1:c.208_212+22del
NM_007294.3:c.208_212+22del , LRG_292t1:c.208_212+22del
NM_007297.3:c.67_71+22del
NM_007298.3:c.208_212+22del
NM_007299.3:c.208_212+22del
NM_007300.3:c.208_212+22del
NR_027676.1:n.351+18_351+44del
NM_007294.4:c.208_212+22del
NM_007297.4:c.67_71+22del
NM_007299.4:c.208_212+22del
NM_007300.4:c.208_212+22del
NR_027676.2:n.392+18_392+44del